This region represents the promoter and proximal regulatory regions of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It includes multiple DNase I hypersensitive sites (DHSs), and enhancer, silencer and transcriptional cis-regulatory elements. An enhancer corresponding to DHS-3.4kb shows cooperative activity with the -35 kb and intron 23 CFTR enhancers. Th... See more...

Aliases for LOC111674463 Gene

Aliases for LOC111674463 Gene

  • CFTR Promoter Region 3
  • CFTR Promoter-Proximal Regulatory Region 3
  • CFTR -3.4 Kb Enhancer 3
  • DHS-3.4kb 3
  • DHS-1600 3
  • DHS-200 3
  • DHS-900 3

External Ids for LOC111674463 Gene

Summaries for LOC111674463 Gene

Entrez Gene Summary for LOC111674463 Gene

  • This region represents the promoter and proximal regulatory regions of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It includes multiple DNase I hypersensitive sites (DHSs), and enhancer, silencer and transcriptional cis-regulatory elements. An enhancer corresponding to DHS-3.4kb shows cooperative activity with the -35 kb and intron 23 CFTR enhancers. The core promoter is regulated by cyclic AMP and protein kinase A, which stimulate binding of cAMP responsive element binding protein 1 (CREB1), activating transcription factors (ATF1 and ATF2), and CCAAT/enhancer binding protein (C/EBP). Positive regulation by interleukin 1 beta (IL-1beta) is mediated by binding of nuclear factor kappa B (NF-kB). Other known transcription factors include cut like homeobox 1 (CUX1 or CDP/cut), which negatively regulates promoter activity, nuclear transcription factor Y (NF-Y), YY1 transcription factor, serum response factor (SRF), and the transcription factors SP1 and USF2 (upstream transcription factor 2), which cooperate in CFTR promoter activation. Naturally-occurring polymorphisms in this sequence may affect transcription factor binding sites and influence promoter activity. This region participates in long-range interactions with enhancers located within a larger topologically associating domain (TAD) that extends both upstream and downstream of the locus. These long-range interactions suggest complex regulation of expression of this promoter in different cell types. [provided by RefSeq, Nov 2018]

GeneCards Summary for LOC111674463 Gene

LOC111674463 (CFTR Promoter Region) is a Biological Region gene. Diseases associated with LOC111674463 include Cystic Fibrosis.

Additional gene information for LOC111674463 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC111674463 Gene

Genomics for LOC111674463 Gene

Genomic Locations for LOC111674463 Gene

Genomic Locations for LOC111674463 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111674463 Gene

RefSeq DNA sequence for LOC111674463 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC111674463 Gene

Proteins for LOC111674463 Gene

Post-translational modifications for LOC111674463 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111674463 Gene

Domains & Families for LOC111674463 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC111674463 Gene

Function for LOC111674463 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC111674463 Gene

Localization for LOC111674463 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC111674463 Gene

Pathways & Interactions for LOC111674463 Gene

PathCards logo

SuperPathways for LOC111674463 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC111674463 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC111674463 Gene

Drugs & Compounds for LOC111674463 Gene

No Compound Related Data Available

Transcripts for LOC111674463 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111674463 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111674463 Gene

Expression for LOC111674463 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC111674463 Gene

Orthologs for LOC111674463 Gene

No data available for Orthologs and Evolution for LOC111674463 Gene

Paralogs for LOC111674463 Gene

No data available for Paralogs for LOC111674463 Gene

Variants for LOC111674463 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC111674463 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
7226 Pathogenic: Cystic fibrosis 117,479,993( ) A/. NO_SEQUENCE_ALTERATION
801152 Uncertain Significance: not provided 117,479,839( ) G/A
rs139688774 Conflicting Interpretations: Cystic fibrosis; not specified 117,479,807( ) G/C
rs1415964307 Uncertain Significance: Cystic fibrosis 117,479,258( ) T/C
rs145483167 Conflicting Interpretations: Cystic fibrosis; not provided 117,479,930( ) G/A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC111674463 Gene

Disorders for LOC111674463 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC111674463 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC111674463: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111674463 Gene

Publications for LOC111674463 Gene

  1. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients. (PMID: 30296588) Kerschner JL … Harris A (The Journal of molecular diagnostics : JMD 2019) 3 54
  2. A transcription factor network represses CFTR gene expression in airway epithelial cells. (PMID: 29572268) Mutolo MJ … Harris A (The Biochemical journal 2018) 3 54
  3. The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis. (PMID: 28478266) Bergougnoux A … Bourdin A (The international journal of biochemistry & cell biology 2017) 3 54
  4. Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. (PMID: 26615198) Moisan S … Férec C (Nucleic acids research 2016) 3 54
  5. Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus. (PMID: 26673704) Yang R … Harris A (Nucleic acids research 2016) 3 54

No data available for Mastermind for LOC111674463 Gene

Products for LOC111674463 Gene

Sources for LOC111674463 Gene